Literature DB >> 13998931

Mental retardation, absence of patellae, other malformations with chromosomal mosiacism.

J WARKANY, J H RUBINSTEIN, S W SOUKUP, M C CU RLESS.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; CHROMOSOMES; MENTAL DEFICIENCY; PATELLA

Mesh:

Year:  1962        PMID: 13998931     DOI: 10.1016/s0022-3476(62)80191-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  7 in total

1.  DEVELOPMENTAL HEMOGLOBIN ANOMALIES IN A CHROMOSOMAL TRIPLICATION: D1 TRISOMY SYNDROME.

Authors:  E R HUEHNS; F HECHT; J V KEIL; A G MOTULSKY
Journal:  Proc Natl Acad Sci U S A       Date:  1964-01       Impact factor: 11.205

2.  NORMAL-TRISOMY 13-15 MOSAICISM IN TWO INFANTS.

Authors:  A D BAIN; J INSLEY; D M DOUGLAS; I K GAULD; H A SCOTT
Journal:  Arch Dis Child       Date:  1965-08       Impact factor: 3.791

3.  Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus).

Authors:  Y M Wright; W E Clark; W R Breg
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

4.  A partial D-trisomy-normal mosaic female.

Authors:  G C Webb; M Garson; M K Robson; D B Pitt
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

5.  Karyotype-phenotype correlation: mosaic trisomy 8 and partial trisomies of different segments of chromosome 8.

Authors:  V M Riccardi; B F Crandall
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132

6.  Mosaicism for an additional partial chromosome 8: 46,XX/47,XX+der(8)(p21 leads to qter).

Authors:  R A Pfeiffer; E Kessel; E Rathgen; M Kulenkampff; T Nehring
Journal:  Hum Genet       Date:  1978-10-31       Impact factor: 4.132

7.  The D trisomy syndrome: a case report with a description of ocular pathology.

Authors:  F SERGOVICH; J S MADRONICH; M L BARR; D H CARR; W A LANGDON
Journal:  Can Med Assoc J       Date:  1963-07-27       Impact factor: 8.262

  7 in total

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